Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type Iiib in a Patient Publisher Pubmed



Alaei MR1 ; Kheirkhahan M2 ; Talebi S2, 3 ; Davoudidehaghani E4 ; Keramatipour M2
Authors

Source: Iranian Biomedical Journal Published:2020


Abstract

Background: GAI and MPSIIIB are two rare genetic disorders caused by pathogenic variants in two different genes. Here, we report a coexistence of these two different rare disorders in an individual. Methods: A four-year-old Iranian boy born to first-cousin parents suspected to have MPSIIIB and/or GAI was investigated in this study. Targeted genomic enrichment and NGS were used to examine genes related to MPS and GA. Sanger sequencing was performed to confirm the results. Results: Two homozygous likely pathogenic variants in NAGLU and GCDH genes were found and confirmed in the proband. Conclusion: A combination of specific features of two different diseases in a patient has been reported here. More studies on this case and similar cases can provide more information about the effect of simultaneous pathogenic variants in different genes. DOI: 10.29252/ibj.24.3.201. © 2020, Pasteur Institute of Iran. All rights reserved.
Related Docs
View other Related Docs
1. Clinical Application of Next Generation Sequencing for Mendelian Disease Diagnosis in the Iranian Population, npj Genomic Medicine (2024)
2. Genotype-Phenotype Correlation and Description of Two Novel Mutations in Iranian Patients With Glycogen Storage Disease 1B (Gsd1b), Orphanet Journal of Rare Diseases (2020)
3. Co-Existence of Phenylketonuria Either With Maple Syrup Urine Disease or Sandhoff Disease in Two Patients From Iran: Emphasizing the Role of Consanguinity, Journal of Pediatric Endocrinology and Metabolism (2016)
Experts (# of related papers)
View all Related Experts
Pantea Izadi (2)
Hamid Reza Mahmoodi (2)
Other Related Docs
4. In Silico Analysis of Novel Mutations in Maple Syrup Urine Disease Patients From Iran, Metabolic Brain Disease (2017)
5. Whole Exome Sequencing Reveals a Xpnpep3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient, Iranian Biomedical Journal (2020)
6. Molecular Genetics of a Cohort of 635 Cases of Phenylketonuria in a Consanguineous Population, Journal of Inherited Metabolic Disease (2018)
7. Human Genomics Technology, (2024)
8. The Association of Rs17713054 With Neanderthal Origin at 3P21.31 Locus With the Severity of Covid-19 in Iranian Patients, Scientific Reports (2024)
9. Phenotypic and Genotypic Characterization of Families With Complex Intellectual Disability Identified Pathogenic Genetic Variations in Known and Novel Disease Genes, Scientific Reports (2020)
10. Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type Vi and Fanconi−Bickel Syndrome, Frontiers in Genetics (2021)
11. A Novel Missense Variant in Gpt2 Causes Non-Syndromic Autosomal Recessive Intellectual Disability in a Consanguineous Iranian Family, European Journal of Medical Genetics (2020)
12. Targeted Next Generation Sequencing Identified a Novel Mutation in Myo7a Causing Usher Syndrome Type 1 in an Iranian Consanguineous Pedigree, International Journal of Pediatric Otorhinolaryngology (2018)
13. Griscelli Syndrome Type 1: A Novel Pathogenic Variant, and Review of Literature, Molecular Genetics and Genomics (2023)
14. Homozygous Mefv Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance, JAMA Dermatology (2021)
15. A Case Report of Concurrent Occurrence of Two Inherited Axonopathies Within a Family: The Benefit of Whole-Exome Sequencing, International Journal of Neuroscience (2023)
16. Role of the Neanderthal Genome in Genetic Susceptibility to Covid-19: 3P21.31 Locus in the Spotlight, Biochemical Genetics (2024)
17. A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations, Molecular Neurobiology (2018)
18. Diagnostic Whole Exome Sequencing in Presumably Autosomal Recessive Inherited Retinal Dystrophies in an Iranian Population, Scientific Reports (2025)
19. Association Between Rs6759298 and Ankylosing Spondylitis in Iranian Population, Avicenna Journal of Medical Biotechnology (2018)
20. Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa, Experimental Dermatology (2019)